Tag Archives: Australia

These are two somewhat unusual case studies from Singapore. Once again, there is a connection between eating disorders and gender identity. Once again, the connection is different from other case studies.

Case 1 – A Fluid Gender Identity and an Eating Disorder

In the first case, the patient had a fluid gender identity; sometimes he identified as a man and sometimes as a woman.

When he identified as a woman, he restricted his food and exercised excessively. He wanted to be thin and felt a kinship with emaciated women because they were infertile like him.

When he identified as a man, he tried to gain weight and muscles, but his exercise and eating habits were still pathological.

The patient was always distressed and dissatisfied with his body.

In other words, his gender identity affected the form his eating disorder took, but it was probably not the cause of it.

Case 2 – Changing Gender Identity, Changing Eating Patterns

In the second case, the patient identified as a woman when he first sought treatment for his eating disorder. However, after a year of treatment, the patient came out to his friends as gay. They were accepting of his sexual orientation and he became more comfortable with a male gender identity.

Similarly to the first case, when the patient wanted to be a woman, he tried to become thin, using restricted eating, excessive exercise, and purging. However, when he began to identify as a male, he tried to build up his muscles and he ate more.

The authors do not comment on whether or not this patient still disliked his body.

The authors suggest that gender identity influences the form of body psychopathology; constructing your gender identity is linked to constructing your body. However, they do not suggest that gender dysphoria caused the eating disorders or that treating the gender dysphoria will cure them.

These two cases support their theory, but it is important to remember that this is a case study of two people. So far, the main conclusion I can draw from various cases studies is that each person’s story is different.

From the Discussion:

“The present case series describes two transgendered biological males seeking treatment for eating disorders, whose intermittent periods of endorsing both masculine and feminine gender identities impacted significantly upon their experience of eating disorder psychopathology. The two patients indicated that during periods of endorsing a feminine gender identity, they experienced an elevated definite drive for thinness, such that their body image psychopathology was oriented towards weight loss, reporting dietary restriction and cardiovascular exercise to lose weight. Furthermore, both patients reported that during periods of masculine gender identity endorsement, their body image psychopathology was oriented towards weight gain with an emphasis on “buff muscularity,” reporting increased food intake and muscle building exercise regimens.

This case series draws attention to the potential role of masculinity and femininity in body image psychopathology amongst males. Both patients depicted reported that the variation in their eating disorder psychopathology was concordant with their preferred gender identity, suggesting that the construction of one’s gender identity and the construction of one’s body may be interrelated.”

More details on the gender shift in the second case study:

At the beginning of treatment,

“…he reported homosexual sexual orientation and described privately wondering whether he was born into the wrong gender from approximately age 6. He reported periodically ‘trying to like girls’ due to the cultural and legal ramifications of homosexuality in his country of origin [probably China], and further stated that on many occasions his sexual orientation resulted in him feeling victimized and bullied. Patient Z reported significant discomfort with his sexual orientation, although he did report a female gender identity, which allowed him to experience his secretive same sex relationships as heterosexual given his assumed female identity.”

Before treatment, when he was restricting his food and purging,

“Patient Z reported immense discomfort surrounding his emerging sexual orientation, and reported strongly endorsing a female identity which enabled Patient Z to experience his same-sex attraction as heterosexual, alleviating the subjective distress and internal conflict he experienced in his homosexual urges. Patient Z described his role models to be female supermodels, stating that he aspired to their thin and feminine frames, adding that his gaunt appearance brought about by dietary restriction ‘accentuated his cheekbones’ and helped him identify with his female role models. Patient Z reported egosynotonicity of eating disorder symptomatology, allowing him to feel ‘small and more like a woman’ which he demonstrated in a collection of drawings depicting emaciated women, which he described as his ideal body.”

But then,

“Approximately 12 months into treatment Patent Z revealed his sexuality to his friends, whose acceptance and support reportedly alleviated the internal conflict he experienced around his same-sex attraction. As a result Patient Z reported reduced ambiguity surrounding his gender identity, describing more comfort in identifying with a male gender identity. During this same period, Patient Z developed a desire for muscular development as opposed to emaciation, and started a muscle building training regimen. Furthermore, this period was also characterized by Patient Z consuming greater quantities of food in support of his desire for greater muscularity.”

This is a brief article about a case of identical twins reared apart who both had gender dysphoria. Unfortunately, it is based on an interview with only one of the twins. This makes it a suggestive report, but not scientific proof.

In addition, one of the twins was born with an intersex condition. This raises the question of whether his gender dysphoria was caused by genes or the prenatal environment.

The twins were born male and separated at birth and raised in different families. They did not meet each other until they were 15. DNA testing confirmed that they were identical twins.

This is only one case, so the conclusions we can draw are limited.

The main weakness of the report, however, is that it is based on the memories of only one of the twins, LT. The authors were able to interview LT in his 50s.* It is possible that his memories of meeting his twin AT 35 years ago would be incorrect or might exaggerate similarities or differences.

According to LT,

“Prior to meeting, by age 8 years both twins experienced gender discomfort, engaged in cross-dressing, and felt that they should have been born as the other gender. Also prior to meeting, both twins experienced unease with the anticipated and actual secondary sexual development of puberty. Furthermore, unbeknownst to his twin, at age 14 years LT was fully committed to undergoing sex reassignment surgery and so convinced his mother that she took him to see a urologist.”

According to the author of the report, this means that both twins met the criteria for gender dysphoria, “persistent cross-gender identification and a strong desire to change the sexual characteristics to those of the other gender.”

I am not comfortable with diagnosing someone you have not interviewed. Clearly, AT had some issues with his gender, but how did he define himself? Did he want to have surgery? Did the twins continue to have contact and did AT’s gender dysphoria persist into adulthood? Did they influence each other after age 15?

This report is also about a tragedy. AT committed suicide at age 35.

The twin’s birth mother had skin cancer and doctors believed she should give one twin up for adoption. AT was therefore put in a state-run institution and then adopted by a less well-to-do family. His parents were “religious, punitive, and rejecting of his cross-gendered behaviors.” (Presumably we know all this from his twin, LT.)

LT was raised by his biological parents. His family was more financially comfortable. His mother and sisters “supported his female identity as it developed and afterward.”

An interesting aspect of this study is that LT was a “sickly infant” and had hypospadias, a birth defect in the urethra. The Intersex Society of America lists it as an intersex condition. There is no information in the study as to whether or not AT also had hypospadias or any other intersex condition.

Did the hypospadias contribute to LT’s gender dysphoria? Could having a scar on your penis influence feelings about gender identity?

Could the hypospadias be a sign of something else that also caused LT’s gender dysphoria?

According to Wikipedia, the cause of most cases of hypospadias is unknown, but it may be influenced by: having an older mother, the mother taking progesterone during pregnancy, the fetus not producing enough testosterone or nor responding to it, or genetics. It seems reasonable to ask if these factors might also affect gender identity.

In this case, the mother was 40 when the twins were born, which might have been a factor in LT’s hypospadias. We don’t know about any hormonal factors.

We have no way of knowing what caused LT’s hypospadias, but it does raise the question of whether the twins’ issues with gender were caused by a genetic factor or something to do with the prenatal environment or the genital surgery.

I am frustrated by this study. It seems like a good case for a genetic component to gender dysphoria – twins reared apart are a classic test of genetic effects. Unfortunately, since it is based on the account of one twin, the evidence is not as strong. It might be that the twin who lived developed a narrative to make sense of his twin’s tragic suicide.

In addition, the fact that one twin had an intersex condition at birth might be a sign of something unusual in the twin’s prenatal environment.

Mostly, though, you can’t say you have scientific proof that the twins were alike if you only interview one of the pair of twins.

It is so very hard to get good data on gender dysphoria. People with gender dysphoria are extremely rare and twins with gender dsyphoria are even rarer. Add in a much-too-high suicide rate, and you have even less ability to collect data.

Once again, we need more research in this area. As Heylens et. al said in their review of the literature: “detailed registers of GID twins, preferably on MZ twins discordant for GID and DZ twins are needed, to gain more decisive information about the influence of genetic vs. environmental factors in the development of GID.“

*The article refers to the twins with male pronouns. The article does not make it clear what the twins did when they grew up. LT, if you have transitioned and I am using the wrong pronouns, I apologize.

Twin and family studies suggest that there may be a genetic component to gender dysphoria. Researchers have naturally been trying to find genes linked to gender dysphoria.

Most of the research has focused on genes that are known to be related to sex hormones in some way.

I. Researchers may have found genes related to gender dysphoria in trans men (born female).

A large Spanish study found an association between the gene for Estrogen Receptor β and gender dysphoria, but a medium-sized Japanese study did not.

A small Austrian study found an association between gender dysphoria and a different gene related to converting progesterone into androgens. Nobody else has looked at this gene.

A possible flaw with the Austrian study is that the control females were seeking help with perimenopausal issues; it may be that their genes were different from the general public.

Both of these results need to be replicated.

It is also possible that the genes were related to sexual orientation.

In the Spanish study, all of the trans men were attracted to women; it is likely that 95% of the control women were attracted to men.

The Austrian study does not talk about sexual orientation, but typically most trans men are attracted to women and most women are not.

Many control women also had the genetic variations found in trans men. Some other genes or environmental factors must also be involved.

These results need to be replicated. The Austrian study was relatively small and possibly flawed while the Spanish and Japanese studies contradict each other.

II. Researchers thought they had found genes related to gender dysphoria in trans women (born male), but larger studies did not replicate the results. It is possible, however, that the genes related to gender dysphoria are different in different populations.

None of the studies found a relationship between gender dysphoria and the gene for CYP19A1.

Three studies found no difference in the gene for estrogen receptor β; the study that found a difference was much smaller than the others.

Three studies found no difference in the gene for androgen receptor, including one study of over 400 trans women.

III. An Italian study that looked at the Y chromosome found no differences between trans women and control males.

IV. An Austrian study that looked at sex chromosomes in trans women and trans men found no significant abnormalities.

V. A Japanese study that looked at genes related to estrogen receptor alpha and progesterone receptor found no differences between the genes of male to female transsexuals and male controls or the genes of female to male transsexuals and female controls. This study also looked at estrogen receptor β, androgen receptor, and CYP19A1 and found no differences for those genes either; this is one of the studies discussed above.

VI. An Austrian study of a gene related to steroid 5-alpha reductase (SRD5A2) found no differences between trans women, trans men, and male and female controls. SRD5A2 is involved in the conversion of testosterone to dihydrotestosterone.

It is important to remember that there may be some other genetic variations that are linked to gender dysphoria in trans women, something that we haven’t studied yet.

At this point, however, we do not seem to have found genes related to gender dysphoria in trans women.

Recommendations for future research:

Look at genes other than the ones related to sex hormones or sex chromosomes. Perhaps the cause of gender dysphoria is different from what we expect.

Control for sexual orientation by including some cis lesbians and gay men in the study.

Study trans people with African ancestry – and other groups that have not yet been studied. Studies so far have looked at people from Spain, Italy, Japan, Austria, America and Australia (Caucasian only), and Sweden.

They found no connection between the genes related to androgen receptors or aromatase, but they did find an association between the ERβ gene and gender dysphoria in trans men.

“The repeat numbers in ERβ were significantly higher in FtMs than in control group, and the likelihood of developing transsexualism was higher (odds ratio: 2.001 [1.15-3.46]) in the subjects with the genotype homozygous for long alleles.”

Three caveats:

All the trans men participating in the study had gender dysphoria that began before puberty and were attracted to women (i.e. members of their biological sex). The control females were probably 95% straight. It is possible that the genetic difference they found is related to sexual orientation, not gender identity.

This is not an absolute difference, it is a difference in frequency – 69% of the trans men had the long allele for ERβ, but so did 59% of the control women. Some other genes or environmental factors must also be involved in gender dysphoria (or sexual orientation).

The study below found different results; however, this study was larger.

They found no differences between the genes of male to female transsexuals and male controls or the genes of female to male transsexuals and female controls.

“The present findings do not provide any evidence that genetic variants of sex hormone-related genes confer individual susceptibility to MTF or FTM transsexualism.”

The abstract does not provide any information on the demographics of the trans women and trans men.

The results of this study for ERβ contradict the results of the Spanish study. The Spanish study looked at 273 trans men while this study only looked at 74, so it is unlikely that the Spanish study is simply wrong.

It may be, however, that this study is still right, at least in Japan. People in different countries have different genes; they may have different genes for gender dysphoria.

It is possible that cultural differences or medical policies may mean that clinics in different countries are looking at groups of people with different problems.

Finally, gender dysphoria might be caused by different factors or combinations of factors in different cultures. Japanese trans men may be different from Spanish trans men in some important way.

A possible flaw in this study is that the females controls were women seeking help with perimenopausal disorders; they may have had genes that were different from the general population. The male controls, on the other hand, were “participating in a health prevention program.”

Since the results found that the frequency of a particular mutation was different in female controls from all of the other groups, it matters a great deal if the control females are significantly different in some other way from the other participants.

This study looked at a different gene from the other studies, CYP17. CYP17 encodes cytochrome, an enzyme involved in converting progesterone and pregnenolone into androgens.

The authors found that a particular mutation of this gene, CYP17 −34 T>C, was associated with female to male transsexualism, but not male to female transsexualism.

They also found that, “the CYP17 −34 T>C allele distribution was gender-specific among controls. The MtF transsexuals had an allele distribution equivalent to male controls, whereas the FtM transsexuals did not follow the gender-specific allele distribution of female controls but rather had an allele distribution equivalent to MtF transsexuals and male controls.”

In other words, trans men and trans women were similar to male controls and not female controls.

They point out, however, that there were women without gender dysphoria who had the mutant allele as well as women with gender dysphoria who did not have it. “Thus, carriage of the mutant CYP17 T−34C SNP C allele is neither necessary nor sufficient for developing transsexualism.”

In other words, there must be other genetic or environmental factors involved.

They do not discuss the sexual orientation of the participants in the study. As discussed above, it is possible that most of the trans men were attracted to women and that this genetic mutation is related to sexual orientation, not gender identity.*

Finally, I keep coming back to the female control group. What if converting progesterone to androgens is related in some way to perimenopausal symptoms? What if the mutant gene protects against problems in menopause somehow and so the female control group includes fewer people with this gene?

2007:

A common polymorphism of the SRD5A2 gene and transsexualism. This Austrian study compared 100 trans women, 47 trans men, 755 control men, and 915 control women. They looked at a mutation of the steroid 5-alpha reductase gene (SRD5A2); this gene produces an enzyme that catalyzes the conversion of testosterone to dihydrotestosterone.

They found no differences between any of the groups. The mutant allele was not associated with transsexualism and its distribution was not gender specific among controls.

This study has the same flaw as the 2008 study listed above; the control females were all seeking help for problems with perimenopause.

2002:

Sex chromosome aberrations and transsexualism. This Austrian study looked at the chromosomes of 30 trans women and 31 trans men. They did not find significant abnormalities, although they suggested further investigation might be worthwhile.

“We could not detect any chromosomal aberrations with the exception of one balanced translocation 46,XY,t(6;17)(p21.3;q23). Importantly, no sex chromosomal aberrations, which would be detectable on the G-banded chromosome level, have been observed.”

They conclude:

“The data described here provide evidence that genetic aberrations detectable on the chromosome level are not significantly associated with transsexualism. In addition, molecular-cytogenetic FISH analyses did not reveal deletions of the androgen receptor gene locus on chromosome Xq12 or of the SRY locus on chromosome Yp11.3. Multiplex PCR analyses demonstrated one AZF deletion in a male-to-female transsexual.”

but:

“However, the detection of one carrier of a Y chromosome microdeletion out of 30 male-to-female transsexuals could argue for further investigations. This is of special interest in light of the recent discussion of gamete banking before hormonal and sex reassignment surgery of transsexuals.”

“This gender disorder does not seem to be associated with any molecular mutations of some of the main genes involved in sexual differentiation.”

The trans women were aged 24-39 and had already begun hormone therapy. A little over half of them had already had sex reassignment surgery and the rest were waiting for it.

2002:

Sex chromosome aberrations and transsexualism. This Austrian study looked at the chromosomes of 30 trans women and 31 trans men. They did not find significant abnormalities, although they suggested further investigation might be worthwhile.

Interestingly, 98% of the trans women had chromosomes that were 46,XY, i.e. normal, but 2% of the group showed aneuploidy, or abnormal chromosomal numbers. This is slightly higher than usual.

The abstract does not go into detail, but presumably the aneuploidies were cases of Klinefelter syndrome; a condition where a person typically has one Y chromosome and two X chromosomes. Most people with Klinefelter’s syndrome identify as male, but there may be a higher than usual occurrence of gender dysphoria among people with Klinefelter’s.

There are no details on the trans women in the abstract; however, the same researchers did a very similar study of trans men (see above). It may be that the participants in the two studies were screened in the same way.

This Australian and American study compared 112 male to female transsexuals to 258 control males. They looked at genes for androgen receptor, estrogen receptor beta, and aromatase. No differences were found for the estrogen receptor or aromatase, but transsexuals had longer repeat lengths for the androgen receptor allele.

This result was not found in the Spanish study or the Japanese study above. The Spanish study was larger than this one. Thus, this result has not been replicated.

However, it is possible that this genetic variation is connected to gender dysphoria for Caucasian trans women in America and Australia, but not in Spain or Sweden and not for Japanese trans women.

It is also possible that the genetic difference found here is related to sexual orientation, not gender identity. The researchers in this study only knew the sexual orientation for about 40% of the participants in the study, but people with gender dysphoria are much more likely to be attracted to people of the same biological sex than people without gender dysphoria.

As in the Spanish, study above, this is not an absolute difference, it is a relative one. There were also cis men who had long AR repeat lengths (Figure 1). Again, some other genes or environmental factors must also be involved in gender dysphoria (or sexual orientation).

The trans women in this study were all Caucasian; 76 of them were from an Australian clinic and 36 of them were from UCLA in America. Almost all of them were on hormones. Some of them had gender dysphoria in childhood. “The sexuality is only known for approximately 40% of patients, because some patients did not wish to discuss or disclose this information or the patient’s sexuality was flexible and not easily classified.”

This Swedish study compared the genes of 24 male to female transsexuals and 229 male controls. They looked at specific areas in the androgen receptor gene, the aromatase gene, and the estrogen receptor β gene.

They did not find a difference between male-to-female transsexuals and men for the first two genes, but they did find a difference related to the gene for estrogen receptor β. “Transsexuals differed from controls with respect to the mean length of the ERβ repeat polymorphism.”

In addition, “binary logistic regression analysis revealed significant partial effects for all three polymorphisms, as well as for the interaction between the AR and aromatase gene polymorphisms, on the risk of developing transsexualism.”

The study was very small, however, and as the authors said, “results should be interpreted with the utmost caution.”

The three more recent studies above did not replicate the findings of this study. The other studies were much larger than this one, so it is possible that these results were a fluke.

It is also possible, that the genes linked to gender dysphoria in Sweden are different from the genes linked to it in other countries.

The authors of the American-Australian study described above say, “Our sample size was approximately four times larger than that of the Swedish study, so it is possible that the former study was underpowered to detect a false positive. Alternatively, there might be differences between Swedish and non-Swedish populations in this polymorphism. In the Swedish study, the long repeat occurred in 51.8% of control subjects and 67.1% of transsexuals, whereas in the present study the long repeat occurred in 36.5% of control subjects and 44.1% of transsexuals. Thus, although there was a trend in the same direction in both studies, there are major differences in prevalence of these long repeats between the two populations.”

The only data we have on the participants in the study are that the trans women were Caucasian and the vast majority of the controls were also Caucasian. Again, it is likely that there was a higher percentage of people attracted to male in the group of trans women than the general population; this might have affected the results.

As the authors point out, “the gene variants investigated in this study are relatively common, none of the studied variants could hence be assumed to be the primary cause of this condition.” Rather, genes might increase or decrease the chance of developing gender dysphoria.

So, if the results of this study are not a fluke, we are still left with the questions of what other factors contribute to developing gender dysphoria and is this a gene related to gender dysphoria or sexual orientation in Sweden?

The end result of all this:

We have a couple of possible candidates for genetic variations related to gender dysphoria in trans men, but we need further studies. We need to replicate the results and to control for sexual orientation. In the case of the CYP 17 gene, we need to compare trans men to healthy control females instead of women with perimenopausal issues.

We don’t have any strong candidates for genetic variations related to gender dysphoria in trans women. Future studies might do well to look for genes that are not related to sex hormones. As always, they should control for sexual identity. (This should be done by adding lesbians and gay men without gender dysphoria, not by excluding trans women who are attracted to women from the studies. See my rants in articles on brain sex.)

*A group of trans women would include many more people attracted to men than a group of control males, but typically about half of trans women are attracted to women while most trans men are attracted to women. Thus this could be a comparison of two groups (control males and trans men) where a large majority of the people are sexually attracted to women, one group where half the people are attracted to women (trans women), and a group where about 5% of the people are attracted to women (control females).

The author of this paper worked with two male patients who had Asperger’s and gender dysphoria. The patients asked for hormones and surgery, but when treatment was withheld, they realized that they were not transgender.

The author concludes that:

“Patients asking for sex reassignment should be assessed for indications of Asperger’s syndrome. Irreversible treatments should be withheld until it is clear there is a genuine issue of transsexualism.”

The author points out that the incidence of Asperger’s Syndrome is above average in people with gender dysphoria. However, one of the characteristics of Asperger’s is obsessive preoccuptions (this can also be a good thing as the foundation for a hobby or career).

In the first case the author treated, the young man was socially isolated as a child, but had no sense of a female identity. At 21, he read a magazine article and decided he must be transsexual. He continued to believe this during four years of psychotherapy.

This doctor then treated the patient for six years. During this time, the patient rarely appeared dressed as a woman. He wanted hormones, but would not live as woman – apparently in Australia you must live three months as the target sex before you can get hormones.

The patient then went to live in a hostel for transsexuals where he discovered that he was not like them; he was not interested in clothes, make-up, or shoes. He realized that he was not transsexual and began to see a therapist who specializes in Asperger’s syndrome.

The doctor describes the second case this way,

“..when he was in Year 11 had worn his hair long and taken the name Marjory. He asked for hormonal transition but two psychiatrists and an endocrinologist wisely withheld hormones. He claimed that from the age of two years he had felt he was a girl. He would get emotional over trivial things – which he said was a female trait! At nine he was cross dressing, which continued into his teens.

He had always felt ‘different’ and over many years had a preoccupation with the ‘Star Wars’ saga and making model spaceships. At the age of 19 years he consulted me because of confusion over gender and sexuality – presenting, nonetheless, as quite a well-adjusted young man. Two years later he was able to say that ‘all that transgender business’ had been a waste of time and had put him a couple of years behind his mates in sexual development. Not long ago, three years after ending treatment, he told me he was married, expecting a child.”

The author is not opposed to allowing people with Asperger’s syndrome to transition; he talks about one case he had where a woman with Asperger’s presented in a very masculine manner and he helped her to transition to a man.

I am not sure what to think of this. The doctor seems sexist and the gatekeeping seems extreme – on the other hand, he was right.

The first case sounds like a good example of someone who wanted to believe he was transsexual in order to solve his problems, but did not really want to live as a woman. In the second case, the patient seemed more interested in actually transitioning, although when treatment was withheld, he decided that he was not transsexual.

The author also briefly discusses Baron-Cohen’s theories about autism:

“Given that there is an above average occurrence of ASD in young people presenting with gender dyshoria (the great majority male-to-female), it seems paradoxical that autism has been considered a case of “the extreme male brain.” Professor Simon Baron-Cohen has demonstrated that the number of autistic traits displayed in childhood relates back positively to levels of fetal testosterone. Baron-Cohen does not believe that gender identity is related to testosterone. However I am not alone in believing that it can be a factor, demonstrated for instance in the incidence of gender dysphoria in Klinefelter’s syndrome.

Hans Asperger himself wrote, ‘The autistic personality is an extreme variant of male intelligence … in the autistic individual the male pattern is exaggerated to the extreme.’”

IMPORTANT NOTE: There are a number of other case studies of patients who have both gender dysphoria and autism. Unfortunately, there are not any large studies of patients with gender dysphoria and autism spectrum disorders.

I highly recommend Gender and Autism on Musings of an Aspie. It includes an excellent discussion of the “extreme male brain” theory of autism.

You can read more about treating patients with autism and gender dysphoria in these articles: